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Gene

NLRP2

NLR family pyrin domain containing 2

Summary

Cytogenetic location
19q13.42
Coordinates
Chromosome 19: 54,966,374–55,001,138 (GRCh38)
Exons
13 exons across 34.8 kb
Protein
1,062 amino acids
Also known as
FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9
Previous symbols
NALP2
MANE Select transcript
ENST00000448584.7NM_017852.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Female Infertility

    • inherited oocyte maturation defect
      • 1 GenCC submitter rates it definitive or strong

How NLRP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where NLRP2 sits. NLRP2 and 43 genes near it on chromosome 19, from 54,483,756 to 55,483,755.Chromosome 1919q13.42p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4354.6 Mb54.8 Mb55 Mb55.2 Mb55.4 MbLAIR2: 54,497,879–54,510,694, forward strandLAIR2LILRA2: 54,572,920–54,590,287, forward strandLILRA2LILRA1: 54,593,582–54,603,259, forward strandLILRA1LILRB1: 54,616,309–54,638,022, forward strandLILRB1LILRB4: 54,643,889–54,670,531, forward strandLILRB4KIR3DL3: 54,724,442–54,736,632, forward strandKIR3DL3KIR2DL3: 54,738,505–54,753,061, forward strandKIR2DL3KIR2DL1: 54,769,793–54,784,332, forward strandKIR2DL1KIR2DL4: 54,803,610–54,814,517, forward strandKIR2DL4KIR3DL1: 54,816,440–54,830,778, forward strandKIR3DL1KIR2DS4: 54,832,676–54,848,569, forward strandKIR2DS4KIR3DL2: 54,850,433–54,867,209, forward strandKIR3DL2FCAR: 54,874,227–54,891,420, forward strandFCARNCR1: 54,906,112–54,941,199, forward strandNCR1NLRP7: 54,923,454–54,966,312, reverse strandNLRP7NLRP2: 54,966,374–55,001,138, forward strandNLRP2GP6: 55,012,055–55,038,264, reverse strandGP6RDH13: 55,039,108–55,071,291, reverse strandRDH13EPS8L1: 55,072,020–55,090,124, forward strandEPS8L1PPP1R12C: 55,090,913–55,117,679, reverse strandPPP1R12CTNNT1: 55,131,662–55,149,351, reverse strandTNNT1TNNI3: 55,151,763–55,157,774, reverse strandTNNI3: 55,154,757–55,160,671, reverse strandDNAAF3: 55,158,661–55,166,722, reverse strandDNAAF3SYT5: 55,171,196–55,180,328, reverse strandPTPRH: 55,181,230–55,209,512, reverse strandPTPRHTMEM86B: 55,226,524–55,228,784, reverse strandTMEM86BPPP6R1: 55,229,776–55,259,070, reverse strandPPP6R1HSPBP1: 55,262,219–55,280,930, reverse strandHSPBP1BRSK1: 55,282,072–55,312,592, forward strandBRSK1TMEM150B: 55,309,440–55,334,048, reverse strandTMEM150BKMT5C: 55,339,367–55,348,122, forward strandKMT5CCOX6B2: 55,349,306–55,354,754, reverse strandCOX6B2: 55,352,301–55,359,516, reverse strandGARIN5B: 55,354,908–55,363,260, reverse strandIL11: 55,364,382–55,370,463, reverse strandTMEM190: 55,376,816–55,378,246, forward strandTMEM238: 55,379,244–55,384,305, reverse strandRPL28: 55,383,856–55,403,342, forward strandUBE2S: 55,385,311–55,408,164, reverse strandUBE2SSHISA7: 55,428,740–55,452,900, reverse strandSHISA7ISOC2: 55,452,975–55,462,343, reverse strandISOC2C19orf85: 55,463,001–55,464,752, reverse strandC19orf85ZNF628: 55,476,597–55,484,487, forward strandZNF628Diagram of NLRP2: 13 exons on the forward strand of chromosome 19Exon 6: 1 known disease-causing siteExon 1: 54,966,374–54,966,467, 94 basesExon 2: 54,969,999–54,970,295, 297 basesExon 3: 54,974,500–54,974,544, 45 basesExon 4: 54,977,752–54,977,823, 72 basesExon 5: 54,981,617–54,981,682, 66 basesExon 6: 54,982,162–54,983,728, 1,567 basesExon 7: 54,985,047–54,985,217, 171 basesExon 8: 54,986,151–54,986,315, 165 basesExon 9: 54,990,022–54,990,192, 171 basesExon 10: 54,990,502–54,990,672, 171 basesExon 11: 54,994,269–54,994,439, 171 basesExon 12: 54,997,317–54,997,487, 171 basesExon 13: 55,000,760–55,001,138, 379 bases124681012135′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.5 kb of the gene's 34.8 kb; 3,189 of those bases code for the protein.

How a genome test reads NLRP2

2

positions in NLRP2 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (50%) falls in a region short reads find hard.

  • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 34.8 kb of NLRP2, introns included, not only the 3.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NLRP2 gene: NLR family pyrin domain containing 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/nlrp2

Vancouver

Dante Labs. NLRP2 gene: NLR family pyrin domain containing 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nlrp2

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